Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency

Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency

BackgroundCarbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder characterized by hyperammonaemia. The biochemical measurement of the intermediate metabolites is helpful for CPS1D diagnosis; it however cannot distinguish CPS1D from N-acetylglutamate syn...

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Bibliographic Details
Main Authors: Ruimiao Bai, ALing He, Jinzhen Guo, Zhankui Li, Xiping Yu, JunAn Zeng, Yang Mi, Lin Wang, Jingjing Zhang, Dong Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Neuroscience
Subjects:
carbamoyl phosphate synthetase 1 (CPS1)
carbamoyl phosphate synthetase 1 deficiency (CPS1D)
urea cycle disorder
molecular diagnosis
next-generation sequencing (NGS)
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2022.1025572/full

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https://www.frontiersin.org/articles/10.3389/fnins.2022.1025572/full

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